Julia
S. - Georgia
Listen
to a HD 98.3 radio interview with Julia and Helen about their
'Make A Wish' trip.
Julia can say, "I just met President Bush at the White
House!"
By Trent Butler
Story
Published: Sep 18, 2007 at 9:55 AM EDT
|
Just
like any other third grader, Julia Smith spends part of
the afternoon in the kitchen finishing her homework.
But,
her class-mates at Augusta Prep won't be able to compete
during show and tell next week.
(Watch
The Video) |
Julia remembers what happened when her Mother
told her she was headed to the White House.
"I was really excited, I was jumping up and
down. And what happened? I hit my head on the car seat".
At least,
this was a happy bruise. Julia has to limit her physical activity
since she has a rare blood disorder, called Glanzmann's Thrombasthenia.
She is missing a protein, which allows her blood to clot. That
means, Julia has a higher risk of nose bleeds, even internal bleeding.
Contact sports are out, but tennis and swimming are allowed. So
is, a visit with the leader of the free world, after Julia told
her mother, about her big future plans.
"Well, you know, Mom, I want to be President
when I grow up. I want to meet the President of the United States
and spend the night in the White House."
After this
once in a lifetime experience, Julia's mother will continue her
quest to raise money for a scientist, who's making progress in
finding a cure for GT. Helen
Smith adds, "Once I discovered a researcher at the Medical
College of Wisconsin, who was actively searching for a cure, and
having some good luck with it, I decided, what I needed to do
was, raise some money for him, help him out."
If you'd like to donate, or get more information,
we've provided a link in this story.
During their White House visit, Julia and her
family presented President Bush with a shirt from the Augusta
National.
Before going, Julia put together a list of questions
for the President, including, "How many times a day do you
shake someone's hand?", and "Can you make yourself a
sandwich in the middle of the night if you get hungry, or does
someone else make it?"
Web posted
Sunday, February 5, 2006
Mom
starts nonprofit to fight disease
By Charmain Z. Brackett
Correspondent
Helen Smith
never thought she'd champion a cause until her daughter, Julia,
was born.
Julia, 7, has a rare blood disorder called Glanzmann's thrombasthenia.
Mrs. Smith, through the Glanzmann's Research Foundation, a nonprofit
organization she founded, helps raise money for research to find
a cure.
 |
"The
year she was born, there were only 200 reported cases"
of the disease, said Smith, whose organization will be the
beneficiary of a fundraising dinner at the National Science
Center's Fort Discovery in March. The event will feature
a silent auction with items such as a celebrity hunting
weekend.
Julia
was diagnosed with the disease when she was about 6 months
old. |
There were
some complications when Julia was born, and she spent the first
two weeks of her life in intensive care.
"She
was covered in bruises" after birth, Mrs. Smith said.
Routine blood
tests didn't show anything, she said.
At the time,
Smith and her husband, Dr. Alan Smith, were living in Birmingham,
Ala. The family returned to Augusta to visit Mrs. Smith's parents.
During the
visit, Smith was awakened in the middle of the night by her daughter's
cries. When she went to check on Julia, she found her covered
in blood from a simple scratch on her face.
Smith's mother,
Anne Proctor, worked at the Medical College of Georgia's pathology
lab. Mrs. Smith took her daughter to MCG and asked that every
test be done to find out why Julia bled so profusely.
The Smiths
moved back to Augusta the next month.
When Smith
was told what was wrong with her daughter, that people with GT
are missing a protein that helps blood to clot, she wanted to
learn more about the disease.
"I found
a blurb in the back of a medical journal, and that was it,"
she said.
She said she
spent a lot of time on the Internet putting her e-mail address
and phone number on the registries of different sites for people
with rare disorders in the hopes of locating someone else with
the disease.
In the summer
of 2001, a grandmother of a GT patient from Ohio contacted Smith
and gave her $1,500 that she had raised through bake sales and
softball tournaments. The woman wanted the money to help others
with GT, Smith said.
At first,
Smith thought she'd donate the money to a hemophilia research
foundation, but then discovered that Dr. David Wilcox, of the
Medical College of Wisconsin, was conducting research on GT. That,
she said, spurred her to start the nonprofit.
There are
few treatments for the disorder, she said, and the ones that do
exist are costly and some have their own dangers. Treatments include
bone marrow transplants and platelet transplants. The Smiths have
tried one medication, but a three-day supply is $20,000.
Julia has
frequent nosebleeds, and she can't walk for a long time or take
part in some types of physical exercise because she bleeds behind
her knees.
During the
past few years, Smith has worked on several fundraisers for the
foundation.
The first
golf tournament nearly five years ago raised $5,000, and almost
all of the proceeds go directly to Wilcox's research.
Wilcox attends
the fundraisers and talks about the progress of his research.
Those with
GT and their family members stay connected through the foundation's
Web site, www.glanzmanns.com.
Smith believes
that there will be a cure for GT.
"I'm
excited about that," she said. "I hear about things
and feel I can help make a difference. We're going to conquer
it, get rid of it. I'm sure of it."
This
story was first written by Staff Writer Lisa M. Lohr
of the Augusta Chronicle on Thursday, September 6, 2001.
At
first glance, Julia Smith's curly golden hair, huge blue
eyes and Cupid's bow lips bring to mind a life-size porcelain
doll. But
the bruises that dot the 2-year-old's body from head to
toe tell a different story. Julia
was born with a rare, incurable bleeding disorder called
Glanzmann's thrombasthenia.
''When
she was born she was black and blue,'' said her mother,
Helen Smith. ''But all her regular blood tests came back
normal.''
Glanzmann's
disorder keeps blood from clotting normally and causes prolonged
bleeding, turning daily childhood accidents into serious
injuries. ''Her
platelets don't work as well as they should,'' said Dr.
Alton Lightsey, Julia's hematologist at the Children's Medical
Center. ''Under a microscope they look normal.'' |
 |
Two-year-old
Julia Smith, here with her mother, Helen, suffers
from an uncurable disease that hampers her blood's
ability to clot. |
|
But Julia's
platelets are missing a protein that helps blood clot.
In the 1970s
and early '80s scientists discovered the defective gene with the
missing protein. David Wilcox, a researcher at the Medical College
of Wisconsin, has used gene therapy to correct the disorder in
laboratory cultures. He hopes to be able to cure the disorder
within five to 10 years. ''Gene
therapy is getting better each year. It looks promising,'' Dr.
Wilcox said.
His study
offers hope to the Smith family, who spend each day trying to
protect Julia from injury. Even
crying or coughing can bruise her or start a seemingly endless
stream of blood. Her parents apply pressure to stop bleeding from
cuts. But they must wait out her severe nosebleeds, which can
last as long as a week.
''It was stuff
that never, ever crossed my mind,'' Mrs. Smith said. Even common
antibiotics, immunizations or teething cause Julia to bleed. During
a nosebleed, there isn't anything to do except constantly wipe
her nose, Mrs. Smith said. The family has learned to cope during
the day, but at night the bleeding tends to make a mess, matting
her hair and eyelashes.
''It doesn't
stop just because she goes to sleep,'' Mrs. Smith said. ''In the
morning we try to clean her up real quick and not make a big to-do
about it.'' The
nosebleeds, although scary, aren't what worries the Smiths the
most. Internal bleeding poses the greatest risk.
''The scary ones are
the ones you can't see,'' Mrs. Smith said.
She has had
to learn to read her daughter's behavior for signs of internal
bleeding. If she is more tired than usual, has little appetite
or a bloodlike smell on her breath, Mrs. Smith gets her to the
doctor. The
last time Julia was admitted to the hospital, her hemoglobin measured
6; normal hemoglobin registers about 12.4. ''At
that point she had lost half her blood,'' Mrs. Smith said.
Mrs. Smith
tries to keep life as normal as possible for her daughter - even
recently enrolling her in a preschool class for three hours a
week. But she always keeps a couple of ''hospital bags'' packed
just in case. ''There's
no predicting it,'' Mrs. Smith said. ''April was a real bad month
for us. She was springing leaks all over the place.''
For females
with Glanzmann's, menstruation and pregnancy pose serious threats.
Menstruation can be controlled with hormones, but pregnancy would
be fatal. The
Smiths hope that Dr. Wilcox will have more answers by the time
Julia has to deal with those problems.
Dr. Wilcox
said there is still much to do, and a lot of money to raise, before
his research can help Julia. ''Right
now, the common way to treat it is to give platelet transfusions,''
he said. ''But these people can develop antibodies and reject
whatever (transfusion) they get. ''So,
we're developing gene therapy to correct this disorder. If we
can put the correct gene into those cells, hopefully the person
could be corrected for their lifetime.''
Dr. Wilcox has bred
10 dogs and many mice with the disorder and is trying to correct
it.
''We have
to verify that it (treatment) works and is safe,'' he said. In
the meantime, boarding the animals is an expense he needs help
with. The cost of feeding and housing the animals is $5 per dog
per day and 25 cents per mouse. Compared
to the extensive costs of the research itself, Mrs. Smith said
she was happy to hear that the cost of keeping the animals was
something she could contribute to.
''That's something
I can help with,'' Mrs. Smith said. ''As long as the animals are
going, his research will keep going.'' Mrs.
Smith coordinated a benefit golf tournament at North Augusta Country
Club in August. The tournament raised $5,000 that will go directly
to Dr. Wilcox's research subjects.
Mrs. Smith
said she plans to continue the tournament each year, to help bring
the cure to her daughter.
|
Throughout
Julia's life she has had to make visits to the Hemotology/Oncology
clinic at the Children's Medical Center because of her rare
blood disorder, Glanzmann's Thrombasthenia. Julia has always
been aware that there are children whose disease causes them
to lose their hair and she often asked questions about why. |
|
When Julia
was 6 she saw, through the GT website, that there was a young
boy, Daniel, who had GT, who'd lost his hair. I explained to Julia
that Daniel was having a Bone Marrow Transplant because of his
GT and that the medicines he had to take made his hair fall out.
Julia said that she hoped other people didn't stare at him because
he had no hair. She thought he must be sad without his hair. She
said she wished she could give him some of her hair. I told her
about Locks of Love and that she could give some of her hair to
some of the children who had to lose their hair. Julia decided
that day to start growing her hair long enough to donate. It took
a year for her to grow her hair.
Julia had
to be hospitalized in the spring for a bleed. I asked her what
she wanted to do when she got out of the hospital and she told
me she wanted to donate her hair. The day after she was released
from the hospital we went to visit 'Miss Debbie' who cut off over
10 inches of Julia's hair. Julia was very proud, and so were her
parents!
Email
Julia's mom
